Canonical Allele Identifier: CA1880978770
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818920C= , CM000671.2:g.129818920C= GRCh38
NC_000009.11:g.132581199C= , CM000671.1:g.132581199C= GRCh37
NC_000009.10:g.131621020C= NCBI36
NG_008049.1:g.10243G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445G= MANE Select ENSP00000345719.4:p.Asp149=
ENST00000651202.1:c.541G= ENSP00000498222.1:p.Asp181=
ENST00000351698.4:c.445G= ENSP00000345719.4:p.Asp149=
ENST00000473604.2:n.555G=
NM_000113.2:c.445G= NP_000104.1:p.Asp149=
XR_929731.1:n.605G=
XR_929731.3:n.473G=
NM_000113.3:c.445G= MANE Select NP_000104.1:p.Asp149=